Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.
Tam B et al.
International Journal of Molecular Sciences, 2024
38255924 (PubMed )
Supplement: ijms-25-00850-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
Whole genome sequencing in high-grade cervical intraepithelial neoplasia patients from different ethnic groups in China.
Wang J et al.
Medicine, 2023
37960754 (PubMed )
Supplement: medi-102-e35953-s002.xlsx › Suppl_Table2
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › MLH1
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.
McVety S et al.
Journal of Medical Genetics, 2006
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